Regional genetic services.
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Genetic Counseling↗
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The organization and delivery of clinical genetics services.
Advances in genetics, including mapping the human genome, improved therapy for genetic disorders, recognition of the role of genetic factors in common diseases of adulthood, and new screening tests for carrier detection and presymptomatic diagnosis create an increased demand for and awareness of clinical genetic services. These services, focusing on diagnosis, management, and genetic counseling, had been supported by a variety of state, provincial, federal, and foundation grants. As clinical genetics has evolved from a service with roots in research provided solely at academic medical centers to one widely available in the community, the services in the United States are increasingly provided on a fee-for-service basis in various settings including private hospitals, state-supported outreach clinics, and free-standing genetics centers, whereas in Canada they are generally based in university hospital settings and are covered by universal health care. Given the limited numbers of clinical geneticists and genetic counselors now practicing, much of the application in this decade of new genetic technologies and knowledge will fall upon primary care physicians.
Genetic Counseling↗
Use of record linkage between a statewide genetics service and a Birth Defects/Congenital Malformations Register to determine use of genetic counselling services.
The Birth Defects/Congenital Malformations Register of the Victorian Department of Human Services contains detailed, confidential information on over 2,000 babies born with a birth defect each year in Victoria, Australia, representing approximately 3% of the annual number of births. For 1991 and 1993, the type of anomaly was categorised as warranting a high, moderate, or low need of referral for genetic counselling, depending on risk of recurrence and possible genetic cause. The Victorian Clinical Genetics Service at the Murdoch Institute, Melbourne, offers free, centralised genetic counselling services for the entire state. A comparison of case records between the two agencies has shown little difference in overall use of genetic counselling between 1991 (17%) and 1993 (16%). Rate of uptake in the "high need" category improved only slightly during that period, from 40% in 1991 to 43% in 1993. Utilization of genetic counselling services did not vary disproportionately with mother's country of birth, but was higher for older mothers. As was expected, rates were highest when a baby was born at the only hospital that provides on-site genetic counselling services. Even where a statewide genetic counselling service is in place, it is disappointing that over half of those judged at high need for genetic counselling are not making use of this service. This study will provide baseline information to which future studies can be compared. Using the same study methodology, it will be possible to examine whether the uptake rate increases in accordance with increased genetic services.
Congenital Abnormalities↗
Minimum guidelines for the delivery of prenatal genetics services. The evaluation of clinical services subcommittee, Great Lakes Regional Genetics Group.
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Humans↗
A scientific basis for cost-benefit analysis of genetics services.
Economic appraisal of genetics services is important, but, in this sensitive area, analyses limited to financial aspects understandably cause public concern. Evaluation of these services must take account of their aim of helping everyone with a genetic disadvantage to live and reproduce as normally as possible, and must apply equally to patients and to couples at risk of having affected children. Here we propose that the classical concept of genetic fitness can be useful in evaluating genetics services, because it is measurable, and truly represents their underlying aim.
Abortion, Therapeutic↗
Genetic services in the United States.
Advances in medical genetics, including mapping of human genome, improved therapy for genetic disorders, and new screening tests for carrier detection and prenatal diagnosis, have created a growing demand for clinical genetic services in the United States. Such services (diagnosis, management, and genetic counseling) received support from state, federal, and private sources and were mostly based in academic medical centers. Gradually, such programs evolved into regional or state-wide activities with an emphasis on outreach clinics. Now, an increasing number of for-profit corporations have entered into this field. Clinical genetic teams usually include clinical geneticists and other professionals with expertise in the diagnosis and management of genetic conditions and skills in information presentation and family support. The American Board of Medical Genetics, the newest member of the American Board of Medical Specialties, provides certification for five categories of genetics professionals and sets standards for training programs. Based on personal experiences from the states of Alabama and Ohio and data from the Council of Regional Networks for Genetic Services, we show and compare trends of newborn screening programs and regional genetic services. The effects of economic and social trends as they impinge on genetic services are monitored via several databases in our center.
Alabama↗
The economics of clinical genetics services. II. A time analysis of a medical genetics clinic.
In a time-and-reimbursement analysis of our clinical genetics service, we documented (1) the time spent by professionals and staff in serving families before, during, and after the clinic visit; (2) the charges and reimbursement for the services provided; and (3) the relationship between income from clinical practice and the personnel costs of the clinic. We found that newly referred and returning families required 7.1 and 4.0 h, respectively. Average collections for professional services were +135 (+19/h) for new families and +49 (+12/h) for returning families. Income from clinical practice covered 37% of the clinical portion of personnel costs. These results indicate that cognitive clinical genetics services are labor intensive, yield low payments per service hour, and are not financially self-supporting. To improve the economic status of genetics clinics, administrators might consider rendering services more efficiently; increasing charges for services; billing for all services provided to all family members; billing for all genetics professionals, including counselors and social workers; and requesting payment at the time of service.
Cost-Benefit Analysis↗
Genetic services for foster children: an unmet need?
The genetics revolution has significant ramifications for child welfare. An overview of genetic disorders and of the expanding array of genetic services is given. Findings of an exploratory study of the proportion of children in out-of-home care in two cities who had diagnosed genetic disorders and who met criteria for referral to genetic services, and utilization of genetic services are presented. The findings suggest that genetic services that might be beneficial to foster children and their biological families are not being offered. Implications for foster care are discussed.
Child↗
Impact of a cancer registry-based genealogy service to support clinical genetics services.
In collaboration with the network of genetics clinics in Scotland, a brief questionnaire was designed to gather data prospectively about the impact of information arising from pedigree research provided by Scottish Cancer Registry personnel. Pedigree research in Scotland is facilitated by access to public records of births, deaths, marriages, and historic census returns up to 1901, and enables the construction of accurate and extensive family pedigrees encompassing generations beyond the detailed knowledge of the proband. Subject to existing confidentiality guidelines, linkage of these pedigrees to cancer registration records results in a more comprehensive family history including the age at diagnosis of any cancer, multiple primary cancers, and cancers unreported from death certificates. Of 454 requests for pedigree research completed between 1 April 2002 and 31 March 2003, questionnaires were returned for 425 (94%). The information fed back to genetics clinics led to changes in family history, risk categorisation, and management in 41%, 30%, and 23% of cases, respectively. Management advice altered in both directions, that is, to institute active follow-up and surveillance of clinic attendees and their relatives where none was previously envisaged, and viceversa. The interests of current and future generations of patients concerned about their familial risk of cancer will be served by measures which enable cancer registries to collect data that are as accurate and complete as possible.
Data Collection↗
Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer.
The aim of this paper is to compare a service offering genetic testing and presymptomatic surveillance to women at increased risk of developing breast cancer with its predecessor of no service at all in terms of survival and quality-adjusted survival (QALYs) by means of a Markov cohort chain simulation model. Genetic assessment and presymptomatic care provided between 0.07-1.61 mean additional life years and 0.05-1.67 mean QALYs over no services. Prophylactic surgery and surveillance extended mean life expectancy by 0.41-1.61 and 0.32-0.99 years, respectively over no services for high-risk women. Model outcomes were sensitive to all the parameters varied in the sensitivity analysis. Providing cancer genetic services increase survival and as long as services do not induce adverse psychological effects they also provide more QALYs. The greatest survival and QALY benefits were found for women with identified mutations. As more cancer genes are identified, the survival and cost-effectiveness of genetic services will improve. Although mastectomy provided most additional life years, when quality of life was accounted for oophorectomy was the optimal strategy. Delayed entry into coordinated genetic services was found to diminish the average survival and QALY gains for a woman utilising these services.
Adult↗
Genetic services, economics, and eugenics.
What are the aims of genetic services? Do any of these aims deserve to be labeled "eugenics"? Answers to these strenuously debated questions depend not just on the facts about genetic testing and screening but also on what is understood by "eugenics," a term with multiple and contested meanings. This paper explores the impact of efforts to label genetic services "eugenics" and argues that attempts to protect against the charge have seriously distorted discussion about their purpose(s). Following Ruth Chadwick, I argue that the existence of genetic services presupposes that genetic disease is undesirable and that means should be offered to reduce it. I further argue that the economic cost of such disease is one reason why governments and health care providers deem such services worthwhile. The important question is not whether such cost considerations constitute "eugenics," but whether they foster practices that are undesirable and, if so, what to do about them The wielding of the term "eugenics" as a weapon in a war over the expansion of genetic services, conjoined with efforts to dissociate such services from the abortion controversy, has produced a rhetoric about the aims of these services that is increasingly divorced from reality. Candor about these aims is a sine qua non of any useful debate over the legitimacy of the methods used to advance them.
Eugenics↗
Expanding nurses' roles in telemedicine & genetics services.
This article presents nursing roles in telemedicine and genetics services. Telemedicine offers a promising solution to delivering comprehensive genetics services to children and families when travel, distance, and shortage of genetics professionals interfere with access. Nurses are already using telemedicine to provide nursing and healthcare services but have become involved in the delivery of genetics services via telemedicine only recently. Involving nurses in the development of telemedicine systems for genetics services is essential as they serve as a vital link between the patient, the healthcare system, and the community. Some of the emerging nursing roles in telemedicine include genetic family-health risk assessment, evaluation and counseling at the advanced practice level and at the primary care level, referral, participation in genetic evaluation and counseling, and family- and community-based care coordination and management. The Genomics Nurse Case Coordinator role as described by is presented as a means of further expanding the maternal-child health nursing role in supporting women and families to manage their own genomic health. Telemedicine offers nurses an opportunity to assure and provide quality genetic healthcare tailored to the individual and family's specific needs within their own community.
Genetic Counseling↗
Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation.
The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical genetics; (b) the conduct of epidemiological research on the prevalence and types of birth defects, genetic disorders and genetic predispositions to common diseases; (c) the education of health professionals in genetics; (d) the education of genetic professionals in community health and public health genetics; (e) the fostering of interactions between clinical geneticists, public health personnel, primary health care workers and community organizations, and (f) a better planning of regionalized services to avoid duplication and inefficiency.
Community Networks↗
GPs' views on their role in cancer genetics services and current practice.
BACKGROUND: Increasing demand for cancer genetics services has necessitated an urgent review of how these services are organized and, in particular, identification of an effective role for primary care. OBJECTIVES: We aimed to assess the views of GPs on their role in cancer genetics services and their confidence in performing that role; to assess their understanding of cancer genetics, current practice and referral behaviour; and to identify needs for information and training to enable GPs to play an effective role in these services. METHOD: A cross-sectional questionnaire survey of GPs was conducted through general practices in SE Scotland; 397 (response rate 59.3%) GPs returned a completed questionnaire. Outcome measures were: responders' perceptions of their role in cancer genetics services; confidence within that role; understanding of cancer genetics; current practice regarding patients presenting with concerns about their family history of cancer; and perceived information and training needs. RESULTS: GPs identified their role to be: taking a family history; making appropriate referrals to specialist services; providing emotional support; teaching breast self-examination; and discussing need for screening. Lack of confidence within this role was reflected in low levels of understanding of cancer genetics and in inappropriate referral practices. Concerns were expressed about the increasingly specialist role demanded of primary care. A desire for referral guidelines and community genetics clinics was identified. CONCLUSIONS: GPs readily identify a role for themselves in cancer genetics services, but admit to a lack of confidence in this area, calling for clear referral guidelines and specialist community support. Current inappropriate referral to specialist services results from a lack of confidence in estimating cancer risk, highlighting the need for the development of clear referral criteria. Given the rapidly increasing demand for cancer genetics services and the vital role of primary care, it is important to identify a model of these services that facilitates effective involvement of GPs without further increasing their workload.
Attitude of Health Personnel↗
[Genetic counseling and genetic services].
Advances in knowledge about the genetic basis of disease have lead to an increasing demand for and expectation of genetic counselling and genetic services. This presents a new challenge to the health care system, as well as a need for professional education and public dialogue. In this review the current provision of genetic counselling and services is described, especially with the focus on the process of counselling and the persons presenting for counselling. Genetic counselling is seen as an information process and the scenarios for decision-making are discussed. The future development of genetic services should be developed within an ethical framework and the importance of quality assessment is underlined.
Decision Making↗
Access to reproductive genetic services for low-income women and women of color.
This article examines access to reproductive genetics services for low-income women and women of color. It explores implications of the use of reproductive technologies; access and barriers to general prenatal care and its impact on accessing reproductive-genetic services; the implications of obtaining reproductive genetic services through public programs and funding, especially as they relate to equal provision of services. The traditional barriers to reproductive-genetics services; the decision-making process involved in genetic counseling when Caucasians dominate the process of counseling people of color; financial/insurance barriers to care for low- and moderate-income clients are also addressed. Recommendations are made to address the problems and inequities.
Abortion, Eugenic↗
Genetic services plan for Wisconsin.
During 1999-2001, a multidisciplinary group met to develop a plan for the future of genetic services in Wisconsin. The result was The Genetic Services Plan for Wisconsin (available at www.slh.wisc.edu/genetics/stateplan_toc.html), a problem-oriented needs-identification guide to address current and future challenges likely to affect the provision of genetic services in Wisconsin. The Plan is directed to all individuals who have a stake in the future of medical genetic services in Wisconsin. These include, but are not limited to, primary and other health care professionals, genetics professionals, governmental representatives, policy makers, legislators, educators, third-party payers, and current and potential consumers. This article provides an overview of The Genetic Services Plan for Wisconsin (Plan) and highlights the recommendations made for the continuing integration of new genetic knowledge across the continuum of medical care delivery in Wisconsin.
Genetic Services↗
Genetic services in Latin America.
This special issue of Community Genetics reviews some of the most important developments in medical genetics in key countries of Latin America. Contributions to this issue were prepared for a special consultation of the World Health Organization held in Porto Alegre, Brazil, on June 19, 2003. Latin America is a region of medium- to low-income countries characterized by socioeconomic problems, with large segments of the population living in poverty and extreme disparities in the distribution of wealth. A rise in chronic diseases typical of the processes of industrialization and urbanization coexists with the persistence of nutritional and infectious diseases characteristic of poverty and underdevelopment. Over the last 2 decades of the 20th century, birth defects and genetic disorders have increased their share of morbidity and mortality, and tertiary-care-based genetic services have developed in urban areas. Although privatization of health care is eroding the public sector, the public institutions continue to be the main providers of genetic services for the bulk of the population and the leaders in research. The development of clinical genetics in the region is concentrated in tertiary-care centers in large cities, although a recent trend began extending genetic services to the community.
Biomedical Research↗